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Article

A novel OPHN1 variant associated with cyclic strabismus but in the absence of OPHN1 syndrome.

Scientific reports - 24 Apr 2026

Nishina Sachiko, Kofuji Satoshi, Matsubara Keiko, Anzai Hazuki, Hirakata Kyoko, Hanazono Yuya, Okamoto-Uchida Yoshimi, Hirayama Jun, Ito Nobutoshi, Fukami Maki, Nishina Hiroshi

Abstract excerpt

Cyclic strabismus is a rare form of strabismus whereby individuals experience the disease in a pattern of alternating days with or without strabismus in a circadian rhythm-dependent manner. However, the molecular mechanism that underlies this rhythm is unknown. OPHN1 encodes a Rho GAP protein, and mutations specifically in the BAR or GAP domains of OPHN1 cause OPHN1 syndrome characterized by intellectual...

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Identifiers

PMID: 42031848
DOI: 10.1038/s41598-026-48129-7
PMCID: PMC13109364

Genes

OPHN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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A novel OPHN1 variant associated with cyclic strabismus but in the absence of OPHN1 syndrome.PMID 42031848Read ↗

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